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"https://www.alliancegenome.org/disease/DOID:0050565" } ] }, { "uniprot_canonical_ac": "A0AC58HYQ7-1", "uniprot_ac": "A0AC58HYQ7", "uniprot_id": "A0AC58HYQ7_DANRE", "refseq_ac": "NP_001159795", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "PKHD1 like 1, tandem duplicate 2 isoform 2 precursor", "type": "synonym" }, { "name": "PKHD1 like 1, tandem duplicate 2 isoform X1", "type": "synonym" }, { "name": "polycystic kidney and hepatic disease-like 2", "type": "synonym" } ], "gene_names": [ { "name": "pkhd1l1.2", "type": "recommended" }, { "name": "pkhd-l2", "type": "synonym" }, { "name": "pkhd1l1.2", "type": "synonym" }, { "name": "si:ch211-244a23.1", "type": "synonym" } ], "record_id": "A0AC58HYQ7-1", "evidence": [ { "id": "0050565", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050565" } ] }, { "uniprot_canonical_ac": "A0A8M1P7C8-1", "uniprot_ac": "A0A8M1P7C8", "uniprot_id": "A0A8M1P7C8_DANRE", "refseq_ac": "NP_001305057", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "PKHD1 like 1, tandem duplicate 1 isoform X1", "type": "synonym" }, { "name": "PKHD1 like 1, tandem duplicate 1 precursor", "type": "synonym" }, { "name": "fibrocystin L", "type": "synonym" }, { "name": "novel gene similar to vertebrate polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1)", "type": "synonym" }, { "name": "polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1", "type": "synonym" }, { "name": "polyductin-L", "type": "synonym" } ], "gene_names": [ { "name": "pkhd1l1.1", "type": "recommended" }, { "name": "pkhd1l1.1", "type": "synonym" }, { "name": "pkhd1l1", "type": "synonym" }, { "name": "si:ch211-122p23.3", "type": "synonym" } ], "record_id": "A0A8M1P7C8-1", "evidence": [ { "id": "0050565", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050565" } ] }, { "uniprot_canonical_ac": "Q8BG19-1", "uniprot_ac": "Q8BG19", "uniprot_id": "TMTC4_MOUSE", "refseq_ac": "NP_082927", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Protein O-mannosyl-transferase TMTC4", "type": "recommended" }, { "name": "2.4.1.109", "type": "synonym" }, { "name": "Transmembrane O-mannosyltransferase targeting cadherins 4", "type": "synonym" }, { "name": "Transmembrane and tetratricopeptide repeat-containing 4", "type": "synonym" }, { "name": "protein O-mannosyl-transferase TMTC4", "type": "synonym" }, { "name": "transmembrane O-mannosyltransferase targeting cadherins 4", "type": "synonym" }, { "name": "transmembrane and TPR repeat-containing protein 4", "type": "synonym" } ], "gene_names": [ { "name": "Tmtc4", "type": "recommended" }, { "name": "4930403J22Rik", "type": "synonym" }, { "name": "5730419O14Rik", "type": "synonym" }, { "name": "Tmtc4", "type": "synonym" } ], "record_id": "Q8BG19-1", "evidence": [ { "id": "0050565", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050565" } ] }, { "uniprot_canonical_ac": "Q91YH6-1", "uniprot_ac": "Q91YH6", "uniprot_id": "VATB1_MOUSE", "refseq_ac": "NP_598918", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "V-type proton ATPase subunit B, kidney isoform", "type": "recommended" }, { "name": "ATPase, H+ transporting, V1 subunit B", "type": "synonym" }, { "name": "ATPase, H+ transporting, lysosomal (vacuolar proton pump), beta 56/58 kDa", "type": "synonym" }, { "name": "ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B", "type": "synonym" }, { "name": "Endomembrane proton pump 58 kDa subunit", "type": "synonym" }, { "name": "V-ATPase subunit B 1", "type": "synonym" }, { "name": "V-type proton ATPase subunit B, kidney isoform", "type": "synonym" }, { "name": "Vacuolar proton pump subunit B 1", "type": "synonym" }, { "name": "endomembrane proton pump 58 kDa subunit", "type": "synonym" }, { "name": "vacuolar proton pump subunit B 1", "type": "synonym" } ], "gene_names": [ { "name": "Atp6v1b1", "type": "recommended" }, { "name": "Atp6b1", "type": "synonym" }, { "name": "Atp6v1b1", "type": "synonym" }, { "name": "D630003L15", "type": "synonym" }, { "name": "D630030L16Rik", "type": "synonym" }, { "name": "D630039P21Rik", "type": "synonym" }, { "name": "Vpp-3", "type": "synonym" }, { "name": "Vpp3", "type": "synonym" } ], "record_id": "Q91YH6-1", "evidence": [ { "id": "0050565", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050565" } ] }, { "uniprot_canonical_ac": "Q99PF4-1", "uniprot_ac": "Q99PF4", "uniprot_id": "CAD23_MOUSE", "refseq_ac": "NP_075859", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Cadherin-23", "type": "recommended" }, { "name": "Otocadherin", "type": "synonym" }, { "name": "age related hearing loss 1", "type": "synonym" }, { "name": "bobby", "type": "synonym" }, { "name": "bustling", "type": "synonym" }, { "name": "cadherin 23 (otocadherin)", "type": "synonym" }, { "name": "cadherin-23 isoform 1 precursor", "type": "synonym" }, { "name": "cadherin-23", "type": "synonym" }, { "name": "modifier of deaf waddler", "type": "synonym" }, { "name": "otocadherin", "type": "synonym" }, { "name": "waltzer", "type": "synonym" } ], "gene_names": [ { "name": "Cdh23", "type": "recommended" }, { "name": "4930542A03Rik", "type": "synonym" }, { "name": "Cdh23", "type": "synonym" }, { "name": "USH1D", "type": "synonym" }, { "name": "ahl1", "type": "synonym" }, { "name": "ahl", "type": "synonym" }, { "name": "bob", "type": "synonym" }, { "name": "bus", "type": "synonym" }, { "name": "mdfw", "type": "synonym" }, { "name": "nmf112", "type": "synonym" }, { "name": "nmf181", "type": "synonym" }, { "name": "nmf252", "type": "synonym" }, { "name": "sals", "type": "synonym" }, { "name": "v", "type": "synonym" } ], "record_id": "Q99PF4-1", "evidence": [ { "id": "0050565", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050565" } ] }, { "uniprot_canonical_ac": "B2RVW2-1", "uniprot_ac": "B2RVW2", "uniprot_id": "CLRN2_MOUSE", "refseq_ac": "NP_001156789", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Clarin-2", "type": "recommended" }, { "name": "clarin-2", "type": "synonym" } ], "gene_names": [ { "name": "Clrn2", "type": "recommended" }, { "name": "Clrn2", "type": "synonym" }, { "name": "EG624224", "type": "synonym" }, { "name": "mpc169H", "type": "synonym" } ], "record_id": "B2RVW2-1", "evidence": [ { "id": "0050565", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050565" } ] }, { "uniprot_canonical_ac": "A0A7N9VSG0-1", "uniprot_ac": "A0A7N9VSG0", "uniprot_id": "AFG2B_MOUSE", "refseq_ac": "NP_001028428", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "ATPase family gene 2 protein homolog B", "type": "recommended" }, { "name": "3.6.4.10", "type": "synonym" }, { "name": "AFG2 AAA ATPase homolog B", "type": "synonym" }, { "name": "ATPase family gene 2 protein homolog B", "type": "synonym" }, { "name": "Ribosome biogenesis protein SPATA5L1", "type": "synonym" }, { "name": "Spermatogenesis-associated protein 5-like protein 1", "type": "synonym" }, { "name": "ribosome biogenesis protein SPATA5L1", "type": "synonym" }, { "name": "spermatogenesis associated 5-like 1", "type": "synonym" }, { "name": "spermatogenesis-associated protein 5-like protein 1", "type": "synonym" } ], "gene_names": [ { "name": "Afg2b", "type": "recommended" }, { "name": "Afg2b", "type": "synonym" }, { "name": "C130039A10Rik", "type": "synonym" }, { "name": "Spata5l1", "type": "synonym" } ], "record_id": "A0A7N9VSG0-1", "evidence": [ { "id": "0050565", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050565" } ] }, { "uniprot_canonical_ac": "Q8C4X7-1", "uniprot_ac": "Q8C4X7", "uniprot_id": "MNARL_MOUSE", "refseq_ac": "NP_776120", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Major intrinsically disordered NOTCH2-binding receptor 1-like homolog", "type": "recommended" }, { "name": "Major intrinsically disordered NOTCH2-associated receptor 2", "type": "synonym" }, { "name": "Membrane integral NOTCH2-associated receptor 2", "type": "synonym" }, { "name": "UPF0258 protein KIAA1024-like homolog", "type": "synonym" }, { "name": "major intrinsically disordered NOTCH2-associated receptor 2", "type": "synonym" }, { "name": "major intrinsically disordered NOTCH2-binding receptor 1-like homolog isoform a", "type": "synonym" }, { "name": "major intrinsically disordered Notch2-binding receptor 1-like homolog", "type": "synonym" } ], "gene_names": [ { "name": "Minar2", "type": "recommended" }, { "name": "A730017C20Rik", "type": "synonym" }, { "name": "Minar2", "type": "synonym" } ], "record_id": "Q8C4X7-1", "evidence": [ { "id": "0050565", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050565" } ] }, { "uniprot_canonical_ac": "Q6PCP7-1", "uniprot_ac": "Q6PCP7", 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"name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Syntaxin-4", "type": "recommended" }, { "name": "syntaxin-4 isoform 1", "type": "synonym" }, { "name": "syntaxin-4", "type": "synonym" } ], "gene_names": [ { "name": "Stx4a", "type": "recommended" }, { "name": "Stx4", "type": "recommended" }, { "name": "Stx4a", "type": "synonym" }, { "name": "Stx4", "type": "synonym" }, { "name": "Syn-4", "type": "synonym" }, { "name": "Syn4", "type": "synonym" } ], "record_id": "P70452-1", "evidence": [ { "id": "0050565", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050565" } ] }, { "uniprot_canonical_ac": "Q80ZA4-1", "uniprot_ac": "Q80ZA4", "uniprot_id": "PKHL1_MOUSE", "refseq_ac": "NP_619615", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Fibrocystin-L", "type": "recommended" }, { "name": "PKHD1-like protein 1", "type": "synonym" }, { "name": "Polycystic kidney and hepatic disease 1-like protein 1", "type": "synonym" }, { "name": "Protein D86", "type": "synonym" }, { "name": "fibrocystin L", "type": "synonym" }, { "name": "fibrocystin-L precursor", "type": "synonym" }, { "name": "polycystic kidney and hepatic disease 1-like protein 1", "type": "synonym" } ], "gene_names": [ { "name": "Pkhd1l1", "type": "recommended" }, { "name": "PKHDL1", "type": "synonym" }, { "name": "Pkhd1l1", "type": "synonym" } ], "record_id": "Q80ZA4-1", "evidence": [ { "id": "0050565", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050565" } ] }, { "uniprot_canonical_ac": "P29033-1", "uniprot_ac": "P29033", "uniprot_id": "CXB2_HUMAN", "refseq_ac": "NP_003995", "glycoprotein": "no", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Gap junction beta-2 protein", "type": "recommended" }, { "name": "Connexin-26", "type": "synonym" }, { "name": "Cx26", "type": "synonym" }, { "name": "connexin 26", "type": "synonym" }, { "name": "gap junction beta 2 proteinc", "type": "synonym" }, { "name": "gap junction beta-2 protein", "type": "synonym" }, { "name": "gap junction protein, beta 2, 26kDa", "type": "synonym" }, { "name": "mutant gap junction beta 2 protein", "type": "synonym" }, { "name": "mutant gap junction protein beta 2", "type": "synonym" } ], "gene_names": [ { "name": "GJB2", "type": "recommended" }, { "name": "BAPS", "type": "synonym" }, { "name": "CX26", "type": "synonym" }, { "name": "DFNA3A", "type": "synonym" }, { "name": "DFNA3", "type": "synonym" }, { "name": "DFNB1A", "type": "synonym" }, { "name": "DFNB1", "type": "synonym" }, { "name": "GJB2", "type": "synonym" }, { "name": "HID", "type": "synonym" }, { "name": "KID", "type": "synonym" }, { "name": "NSRD1", "type": "synonym" }, { "name": "PPK", "type": "synonym" } ], "record_id": "P29033-1", "evidence": [ { "id": "220290", "database": "MIM", "url": "https://www.omim.org/entry/220290" } ] }, { "uniprot_canonical_ac": "P32867-1", "uniprot_ac": "P32867", "uniprot_id": "SSO1_YEAST", "refseq_ac": "NP_015092", "glycoprotein": "no", "species": [ { "name": "Saccharomyces cerevisiae S288C", "taxid": 559292, "common_name": "Baker's yeast", "glygen_name": "Yeast", "reference_species": "Saccharomyces cerevisiae S288C [559292]" } ], "protein_names": [ { "name": "Protein SSO1", "type": "recommended" }, { "name": "syntaxin", "type": "synonym" } ], "gene_names": [ { "name": "SSO1", "type": "recommended" }, { "name": "P1405", "type": "synonym" }, { "name": "SSO1", "type": "synonym" } ], "record_id": "P32867-1", "evidence": [ { "id": "0050565", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050565" } ] }, { "uniprot_canonical_ac": "P16140-1", "uniprot_ac": "P16140", "uniprot_id": "VATB_YEAST", "refseq_ac": "NP_009685", "glycoprotein": "no", "species": [ { "name": "Saccharomyces cerevisiae S288C", "taxid": 559292, "common_name": "Baker's yeast", "glygen_name": "Yeast", "reference_species": "Saccharomyces cerevisiae S288C [559292]" } ], "protein_names": [ { "name": "V-type proton ATPase subunit B", "type": "recommended" }, { "name": "H(+)-transporting V1 sector ATPase subunit B", "type": "synonym" }, { "name": "V-ATPase 57 kDa subunit", "type": "synonym" }, { "name": "V-ATPase subunit B", "type": "synonym" }, { "name": "Vacuolar proton pump subunit B", "type": "synonym" } ], "gene_names": [ { "name": "VMA2", "type": "recommended" }, { "name": "VAT2", "type": "synonym" }, { "name": "VMA2", "type": "synonym" }, { "name": "YBR1002", "type": "synonym" } ], "record_id": "P16140-1", "evidence": [ { "id": "0050565", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050565" } ] }, { "uniprot_canonical_ac": "D3ZL71-1", "uniprot_ac": "D3ZL71", "uniprot_id": "D3ZL71_RAT", "refseq_ac": "NP_001178026", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Clarin 2", "type": "synonym" }, { "name": "clarin-2", "type": "synonym" } ], "gene_names": [ { "name": "Clrn2", "type": "recommended" }, { "name": "Clrn2", "type": "synonym" } ], "record_id": "D3ZL71-1", "evidence": [ { "id": "0050565", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050565" } ] }, { "uniprot_canonical_ac": "D4A2B7-1", "uniprot_ac": "D4A2B7", "uniprot_id": "AFG2B_RAT", "refseq_ac": "NP_001103117", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "ATPase family gene 2 protein homolog B", "type": "recommended" }, { "name": "3.6.4.10", "type": "synonym" }, { "name": "AFG2 AAA ATPase homolog B", "type": "synonym" }, { "name": "ATPase family gene 2 protein homolog B", "type": "synonym" }, { "name": "Ribosome biogenesis protein SPATA5L1", "type": "synonym" }, { "name": "Spermatogenesis-associated protein 5-like protein 1", "type": "synonym" }, { "name": "ribosome biogenesis protein SPATA5L1", "type": "synonym" }, { "name": "spermatogenesis associated 5-like 1", "type": "synonym" }, { "name": "spermatogenesis-associated protein 5-like protein 1", "type": "synonym" } ], "gene_names": [ { "name": "Afg2b", "type": "recommended" }, { "name": "Afg2b", "type": "synonym" }, { "name": "Spata5l1", "type": "synonym" } ], "record_id": "D4A2B7-1", "evidence": [ { "id": "0050565", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050565" } ] }, { "uniprot_canonical_ac": "P58365-1", "uniprot_ac": "P58365", "uniprot_id": "CAD23_RAT", "refseq_ac": "", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Cadherin-23", "type": "recommended" }, { "name": "Otocadherin", "type": "synonym" } ], "gene_names": [ { "name": "Cdh23", "type": "recommended" } ], "record_id": "P58365-1", "evidence": [ { "id": "0050565", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050565" } ] }, { "uniprot_canonical_ac": "A0ABK0LWI8-1", "uniprot_ac": "A0ABK0LWI8", "uniprot_id": "A0ABK0LWI8_RAT", "refseq_ac": "NP_001099614", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Membrane integral NOTCH2 associated receptor 2", "type": "synonym" }, { "name": "UPF0258 protein KIAA1024-like homolog", "type": "synonym" }, { "name": "major intrinsically disordered NOTCH2-binding receptor 1-like", "type": "synonym" } ], "gene_names": [ { "name": "Minar2", "type": "recommended" }, { "name": "Minar2", "type": "synonym" }, { "name": "RGD1312005", "type": "synonym" } ], "record_id": "A0ABK0LWI8-1", "evidence": [ { "id": "0050565", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050565" } ] }, { "uniprot_canonical_ac": "Q8K451-1", "uniprot_ac": "Q8K451", "uniprot_id": "GP156_RAT", "refseq_ac": "NP_695207", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Probable G protein-coupled receptor 156", "type": "recommended" }, { "name": "GABAB-related G protein-coupled receptor", "type": "synonym" }, { "name": "GABAB-related G-protein coupled receptor", "type": "synonym" }, { "name": "probable G-protein coupled receptor 156", "type": "synonym" } ], "gene_names": [ { "name": "Gpr156", "type": "recommended" }, { "name": "Gababl", "type": "synonym" }, { "name": "Gpr156", "type": "synonym" } ], "record_id": "Q8K451-1", "evidence": [ { "id": "0050565", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050565" } ] }, { "uniprot_canonical_ac": "Q08850-1", "uniprot_ac": "Q08850", "uniprot_id": "STX4_RAT", "refseq_ac": "NP_112387", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Syntaxin-4", "type": "recommended" }, { "name": "syntaxin 4A (placental)", "type": "synonym" }, { "name": "syntaxin-4", "type": "synonym" } ], "gene_names": [ { "name": "Stx4", "type": "recommended" }, { "name": "Stx4a", "type": "synonym" }, { "name": "Stx4", "type": "synonym" } ], "record_id": "Q08850-1", "evidence": [ { "id": "0050565", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050565" } ] }, { "uniprot_canonical_ac": "F1MAQ6-1", "uniprot_ac": "F1MAQ6", "uniprot_id": "F1MAQ6_RAT", "refseq_ac": "", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Protein O-mannosyl-transferase TMTC4", "type": "recommended" }, { "name": "2.4.1.109", "type": "synonym" }, { "name": "Transmembrane O-mannosyltransferase targeting cadherins 4", "type": "synonym" }, { "name": "Transmembrane and tetratricopeptide repeat-containing 4", "type": "synonym" } ], "gene_names": [ { "name": "Tmtc4", "type": "recommended" } ], "record_id": "F1MAQ6-1", "evidence": [ { "id": "0050565", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050565" } ] }, { "uniprot_canonical_ac": "D4A9R2-1", "uniprot_ac": "D4A9R2", "uniprot_id": "D4A9R2_RAT", "refseq_ac": "NP_001030103", 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"Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Vacuolar proton pump subunit B", "type": "recommended" }, { "name": "ATPase, H transporting, lysosomal V1 subunit B1", "type": "synonym" }, { "name": "ATPase, H+ transporting, V1 subunit B", "type": "synonym" }, { "name": "V-ATPase subunit B", "type": "synonym" }, { "name": "V-type proton ATPase subunit B, kidney isoform", "type": "synonym" }, { "name": "Vacuolar proton pump subunit B", "type": "synonym" } ], "gene_names": [ { "name": "Atp6v1b1", "type": "recommended" }, { "name": "Atp6v1b1", "type": "synonym" } ], "record_id": "D3ZZS8-1", "evidence": [ { "id": "0050565", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050565" } ] }, { "uniprot_canonical_ac": "Q9VGG5-1", "uniprot_ac": "Q9VGG5", "uniprot_id": "CAD87_DROME", "refseq_ac": "NP_731649", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Cadherin-87A", "type": "recommended" }, { "name": "CG6977-PA", "type": "synonym" }, { "name": "Cad87A-PA", "type": "synonym" }, { "name": "cadherin 87A", "type": "synonym" } ], "gene_names": [ { "name": "Cad87A", "type": "recommended" }, { "name": "CG6977", "type": "synonym" }, { "name": "CT21611", "type": "synonym" }, { "name": "Cad87A", "type": "synonym" }, { "name": "Cad87", "type": "synonym" }, { "name": "DCad87A", "type": "synonym" }, { "name": "Dmel\\CG6977", "type": "synonym" } ], "record_id": "Q9VGG5-1", "evidence": [ { "id": "0050565", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050565" } ] }, { "uniprot_canonical_ac": "Q8IRD1-1", "uniprot_ac": "Q8IRD1", "uniprot_id": "Q8IRD1_DROME", "refseq_ac": "NP_728878", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "AAA+ ATPase domain-containing protein", "type": "recommended" }, { "name": "CG12010-PB", "type": "synonym" }, { "name": "uncharacterized protein", "type": "synonym" } ], "gene_names": [ { "name": "Dmel\\CG12010", "type": "recommended" }, { "name": "CG12010", "type": "synonym" }, { "name": "Dmel\\CG12010", "type": "synonym" }, { "name": "Dmel_CG12010", "type": "synonym" } ], "record_id": "Q8IRD1-1", "evidence": [ { "id": "0050565", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050565" } ] }, { "uniprot_canonical_ac": "Q24547-1", "uniprot_ac": "Q24547", "uniprot_id": "STX1A_DROME", "refseq_ac": "NP_001303545", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Syntaxin-1A", "type": "recommended" }, { "name": "CG31136-PC", "type": "synonym" }, { "name": "STX1A", "type": "synonym" }, { "name": "Syx1A-PC", "type": "synonym" }, { "name": "dSynt1", "type": "synonym" }, { "name": "dsyntaxin-1A", "type": "synonym" }, { "name": "synataxin 1", "type": "synonym" }, { "name": "syntaxin 1A, isoform C", "type": "synonym" }, { "name": "syntaxin 1A", "type": "synonym" }, { "name": "syntaxin-1A", "type": "synonym" }, { "name": "syntaxin1A", "type": "synonym" }, { "name": "syntaxin1", "type": "synonym" }, { "name": "syntx 1", "type": "synonym" } ], "gene_names": [ { "name": "Syx1A", "type": "recommended" }, { "name": "CG10716", "type": "synonym" }, { "name": "CG18615", "type": "synonym" }, { "name": "CG31136", "type": "synonym" }, { "name": "CG5448", "type": "synonym" }, { "name": "CT30033", "type": "synonym" }, { "name": "Dm Syx1", "type": "synonym" }, { "name": "DmSyx1A", "type": "synonym" }, { "name": "Dmel\\CG31136", "type": "synonym" }, { "name": 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"reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Syntaxin-4", "type": "recommended" }, { "name": "Renal carcinoma antigen NY-REN-31", "type": "synonym" }, { "name": "renal carcinoma antigen NY-REN-31", "type": "synonym" }, { "name": "syntaxin 4A (placental)", "type": "synonym" }, { "name": "syntaxin-4 isoform 2", "type": "synonym" } ], "gene_names": [ { "name": "STX4", "type": "recommended" }, { "name": "DFNB123", "type": "synonym" }, { "name": "STX4A", "type": "synonym" }, { "name": "STX4", "type": "synonym" }, { "name": "p35-2", "type": "synonym" } ], "record_id": "Q12846-1", "evidence": [ { "id": "0050565", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050565" } ] }, { "uniprot_canonical_ac": "Q8NFN8-1", "uniprot_ac": "Q8NFN8", "uniprot_id": "GP156_HUMAN", "refseq_ac": "NP_001161743", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Probable G protein-coupled receptor 156", "type": "recommended" }, { "name": "G protein-coupled receptor PGR28", "type": "synonym" }, { "name": "GABAB-related G protein-coupled receptor", "type": "synonym" }, { "name": "GABAB-related G-protein coupled receptor", "type": "synonym" }, { "name": "probable G-protein coupled receptor 156 isoform 2", "type": "synonym" }, { "name": "probable G-protein coupled receptor 156", "type": "synonym" } ], "gene_names": [ { "name": "GPR156", "type": "recommended" }, { "name": "DFNB121", "type": "synonym" }, { "name": "GABABL", "type": "synonym" }, { "name": "GPR156", "type": "synonym" }, { "name": "PGR28", "type": "synonym" } ], "record_id": "Q8NFN8-1", "evidence": [ { "id": "0050565", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050565" } ] }, { "uniprot_canonical_ac": "P59773-1", "uniprot_ac": "P59773", "uniprot_id": "MNARL_HUMAN", "refseq_ac": "NP_001244237", 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{ "id": "0050565", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050565" } ] }, { "uniprot_canonical_ac": "Q9BVQ7-1", "uniprot_ac": "Q9BVQ7", "uniprot_id": "AFG2B_HUMAN", "refseq_ac": "NP_001310569", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "ATPase family gene 2 protein homolog B", "type": "recommended" }, { "name": "3.6.4.10", "type": "synonym" }, { "name": "AFG2 AAA ATPase homolog B", "type": "synonym" }, { "name": "ATPase family gene 2 protein homolog B isoform 2", "type": "synonym" }, { "name": "ATPase family gene 2 protein homolog B", "type": "synonym" }, { "name": "Ribosome biogenesis protein SPATA5L1", "type": "synonym" }, { "name": "Spermatogenesis-associated protein 5-like protein 1", "type": "synonym" }, { "name": "ribosome biogenesis protein SPATA5L1", "type": "synonym" }, { "name": "spermatogenesis associated 5 like 1", "type": "synonym" }, { "name": "spermatogenesis-associated protein 5-like protein 1", "type": "synonym" } ], "gene_names": [ { "name": "AFG2B", "type": "recommended" }, { "name": "AFG2B", "type": "synonym" }, { "name": "DFNB119", "type": "synonym" }, { "name": "NEDHLS", "type": "synonym" }, { "name": "SPATA5L1", "type": "synonym" } ], "record_id": "Q9BVQ7-1", "evidence": [ { "id": "0050565", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050565" } ] }, { "uniprot_canonical_ac": "Q9H251-1", "uniprot_ac": "Q9H251", "uniprot_id": "CAD23_HUMAN", "refseq_ac": "NP_001165401", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Cadherin-23", "type": "recommended" }, { "name": "Otocadherin", "type": "synonym" }, { "name": "cadherin-23 isoform 3 precursor", "type": "synonym" }, { 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